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NM_001754.5(RUNX1):c.302TGC[1] (p.Leu102del) AND Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 5, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002289015.2

Allele description

NM_001754.5(RUNX1):c.302TGC[1] (p.Leu102del)

Gene:
RUNX1:RUNX family transcription factor 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
21q22.12
Genomic location:
Preferred name:
NM_001754.5(RUNX1):c.302TGC[1] (p.Leu102del)
Other names:
NM_001754.5(RUNX1):c.302TGC[1]; p.Leu102del
HGVS:
  • NC_000021.9:g.34886887GCA[1]
  • NG_011402.2:g.1102820TGC[1]
  • NM_001001890.3:c.221TGC[1]
  • NM_001122607.2:c.221TGC[1]
  • NM_001754.5:c.302TGC[1]MANE SELECT
  • NP_001001890.1:p.Leu75del
  • NP_001116079.1:p.Leu75del
  • NP_001745.2:p.Leu102del
  • NP_001745.2:p.Leu102del
  • LRG_482t1:c.302_304TGC[1]
  • LRG_482:g.1102820TGC[1]
  • LRG_482p1:p.Leu102del
  • NC_000021.8:g.36259184GCA[1]
  • NM_001754.4:c.302_304TGC[1]
  • NM_001754.5:c.305_307delMANE SELECT
Protein change:
L102del
Molecular consequence:
  • NM_001001890.3:c.221TGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001122607.2:c.221TGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001754.5:c.302TGC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
1

Condition(s)

Name:
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Synonyms:
PLATELET DISORDER, ASPIRIN-LIKE; Familial platelet disorder with associated myeloid malignancy; Familial Platelet Disorder with Propensity to Acute Myelogenous Leukemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0100083; MeSH: C563324; MedGen: C1832388; Orphanet: 71290; OMIM: 601399

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002581351MGZ Medical Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 5, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From MGZ Medical Genetics Center, SCV002581351.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jan 13, 2025